Clinical diagnosis of incontinentia pigmenti in a cohort of male patients

Francesca Fusco; Giorgia Fimiani; Gianluca Tadini; D&apos;Urso Michele; Matilde Valeria Ursini

doi:10.1016/j.jaad.2006.09.019

Clinical diagnosis of incontinentia pigmenti in a cohort of male patients

Francesca Fusco, Giorgia Fimiani, Gianluca Tadini, D'Urso Michele, Matilde Valeria Ursini

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well. Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO gene and the exon 4-10 deletion in NEMO that occurs in the majority of affected girls with IP, confirming postzygotic mosaicism for the NEMO gene.

Original language	English
Pages (from-to)	264-267
Number of pages	4
Journal	Journal of the American Academy of Dermatology
Volume	56
Issue number	2
DOIs	https://doi.org/10.1016/j.jaad.2006.09.019
Publication status	Published - Feb 2007

ASJC Scopus subject areas

Dermatology

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abstract = "Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well. Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO gene and the exon 4-10 deletion in NEMO that occurs in the majority of affected girls with IP, confirming postzygotic mosaicism for the NEMO gene.",

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AU - Ursini, Matilde Valeria

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